Metastatic pancreatic adenocarcinoma associated with chronic calcific pancreatitis and a heterozygous SPINK1 N34S mutation

Robert A Moran; Robert Klapheke; Niloofar Y Jalaly; Martin A Makary; Kenzo Hirose; Michael Goggins; Laura Wood; Daniel A Laheru; Anne Marie Lennon; Mouen A Khashab; Vikesh K Singh

doi:10.1016/j.pan.2016.06.006

Metastatic pancreatic adenocarcinoma associated with chronic calcific pancreatitis and a heterozygous SPINK1 N34S mutation

Pancreatology. 2016 Sep-Oct;16(5):869-72. doi: 10.1016/j.pan.2016.06.006. Epub 2016 Jun 21.

Authors

Affiliations

¹ Pancreatitis Center, Division of Gastroenterology, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Division of Gastroenterology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address: rmoran13@jhmi.edu.
² Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
³ Division of Gastroenterology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
⁴ Division of Surgical Oncology, Department of Surgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
⁵ Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
⁶ Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
⁷ Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
⁸ Pancreatitis Center, Division of Gastroenterology, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Division of Gastroenterology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

PMID: 27358244
DOI: 10.1016/j.pan.2016.06.006

Abstract

Contrary to patients with a cationic trypsinogen gene (PRSS1) mutations, Serine protease inhibitor Kazal-type 1 (SPINK1) heterozygote gene mutation carriers have a very low penetrance for acute, acute recurrent and/or chronic pancreatitis. Despite this, heterozygote SPINK 1 gene mutation patients have a similar age of onset of pancreatitis as PRSS 1 gene mutation patients. While the substantially elevated risk of pancreatic cancer in patients with PRSS1 gene mutations with chronic pancreatitis has been well established, little is known about the risk of pancreatic cancer in SPINK 1 gene mutation carriers with pancreatitis. We describe a case of malignant pancreatic cancer diagnosed in a young patient with chronic pancreatitis who is a SPINK 1 heterozygote gene mutation carrier. The risk of pancreatic cancer in gene mutation patients with chronic pancreatitis, in addition to screening options and management options for these patients is discussed.

Keywords: Chronic pancreatitis; Pancreatic adenocarcinoma; SPINK1.

Publication types

Case Reports

MeSH terms

Adenocarcinoma / complications*
Adenocarcinoma / diagnostic imaging
Adenocarcinoma / genetics*
Adult
Calcinosis / complications*
Calcinosis / diagnostic imaging
Calcinosis / genetics*
Carrier Proteins / genetics*
Female
Heterozygote
Humans
Mutation
Pancreatic Neoplasms / complications*
Pancreatic Neoplasms / diagnostic imaging
Pancreatic Neoplasms / genetics*
Pancreatitis, Chronic / complications*
Pancreatitis, Chronic / diagnostic imaging
Pancreatitis, Chronic / genetics*
Risk
Tomography, X-Ray Computed
Trypsin Inhibitor, Kazal Pancreatic

Substances

Carrier Proteins
SPINK1 protein, human
Trypsin Inhibitor, Kazal Pancreatic